2014Chinese Journal of Birth Health & HeredityRequires access

Fetal karyotype analysis in 462 cases for high risk of serological screening for Down's syndrome

Zuo Jua

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Abstract

Objective:To investigate the value of serological screening for Down's syndrome in detecting chromosomal abnormalities. Methods:462 cases were chosen.All patients were done amniocentesis for high risk of prenatal serological screening for Down's syndrome,and amniotic fluid cell were cultured,and the fetal karyotype were analyed.Results:The rate of training success is 100%.The abnormal chromosome karyotypes of 35 cases were as follows:7cases for trisomy 21,including 1case for the Robertsonian translocation,3 case for trisomy 18,2 cases for structural chromosomal abnormality,20 cases for mosaicism,3 cases for sex chromosome abnormalities,and 1 case for other chromosome abnormalities. Conclusion:Serological screening is important to prevent the birth of Down's syndrome,and it can help detecting other chromosomal abnormalities.

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Objective:To investigate the value of serological screening for Down's syndrome in detecting chromosomal abnormalities. Methods:462 cases were chosen.All patients were done amniocentesis for high risk of prenatal serological screening for Down's syndrome,and amniotic fluid cell were cultured,and the fetal karyotype were analyed.Results:The rate of training success is 100%.The abnormal chromosome karyotypes of 35 cases were as follows:7cases for trisomy 21,including 1case for the Robertsonian translocation,3 case for trisomy 18,2 cases for structural chromosomal abnormality,20 cases for mosaicism,3 cases for sex chromosome abnormalities,and 1 case for other chromosome abnormalities. Conclusion:Serological screening is important to prevent the birth of Down's syndrome,and it can help detecting other chromosomal abnormalities.

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Available abstract

Objective:To investigate the value of serological screening for Down's syndrome in detecting chromosomal abnormalities. Methods:462 cases were chosen.All patients were done amniocentesis for high risk of prenatal serological screening for Down's syndrome,and amniotic fluid cell were cultured,and the fetal karyotype were analyed.Results:The rate of training success is 100%.The abnormal chromosome karyotypes of 35 cases were as follows:7cases for trisomy 21,including 1case for the Robertsonian translocation,3 case for trisomy 18,2 cases for structural chromosomal abnormality,20 cases for mosaicism,3 cases for sex chromosome abnormalities,and 1 case for other chromosome abnormalities. Conclusion:Serological screening is important to prevent the birth of Down's syndrome,and it can help detecting other chromosomal abnormalities.

Key concepts: Amniocentesis, Karyotype, Trisomy, Serology, Prenatal diagnosis, Chromosomal translocation, Robertsonian translocation, Down syndrome

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